End-plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit

Annals of Neurology

Volumn 40, Issue 5, 1996, Pages 810-817

  Engel, Andrew G ^a   Ohno, Kinji ^a   Bouzat, Cecilia ^a   Sine, Steven M ^a   Griggs, Robert C ^b  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF ROCHESTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR;

ARTICLE; CASE REPORT; CODON; CYTOCHEMISTRY; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MYASTHENIA; NEUROMUSCULAR TRANSMISSION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POSTSYNAPTIC MEMBRANE; PREDICTION; PRIORITY JOURNAL;

EID: 0029807971     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400521     Document Type: Article

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